Mutagenetix > Incidental Mutation

Incidental Mutation 'R5730:Mrpl39'

452734

Institutional Source

Beutler Lab

Gene Symbol

Mrpl39

Ensembl Gene

ENSMUSG00000022889

Gene Name

mitochondrial ribosomal protein L39

Synonyms

MRP-L5, Rpml5

MMRRC Submission

043191-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.944) question?

Stock #

R5730 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84515068-84532261 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 84529322 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 107 (G107R)

Ref Sequence

ENSEMBL: ENSMUSP00000112283 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000116584]

AlphaFold

Q9JKF7

Predicted Effect

probably damaging
Transcript: ENSMUST00000116584
AA Change: G107R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112283
Gene: ENSMUSG00000022889
AA Change: G107R

Domain	Start	End	E-Value	Type
low complexity region	5	22	N/A	INTRINSIC
SCOP:d1a04a1	27	69	8e-3	SMART
PDB:4CE4\|C	66	335	N/A	PDB
SCOP:d1qf6a2	73	126	1e-2	SMART
SCOP:d1qf6a3	128	319	4e-28	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133901

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157433

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Two transcript variants encoding distinct isoforms have been described. A pseudogene corresponding to this gene is found on chromosome 5q. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	C	19: 8,987,617 (GRCm39)	V2967A	possibly damaging	Het
Apaf1	A	T	10: 90,856,633 (GRCm39)	I858K	possibly damaging	Het
Baiap3	T	C	17: 25,466,498 (GRCm39)	T466A	probably benign	Het
Brca2	T	A	5: 150,492,470 (GRCm39)	S3162T	possibly damaging	Het
Brd1	T	G	15: 88,601,248 (GRCm39)	N462T	probably benign	Het
Carm1	G	A	9: 21,491,636 (GRCm39)	R235H	probably benign	Het
Cd80	T	C	16: 38,303,097 (GRCm39)		probably null	Het
Clip4	A	G	17: 72,117,954 (GRCm39)	Y333C	probably damaging	Het
Col7a1	T	C	9: 108,801,310 (GRCm39)		probably null	Het
Csmd1	G	A	8: 16,235,206 (GRCm39)	Q1206*	probably null	Het
Cyp17a1	A	G	19: 46,661,095 (GRCm39)	I63T	possibly damaging	Het
Diaph1	A	G	18: 38,036,829 (GRCm39)	Y119H	unknown	Het
Dst	T	G	1: 34,156,607 (GRCm39)		probably null	Het
Fgfr1	A	G	8: 26,063,827 (GRCm39)	T785A	probably damaging	Het
Gm1553	A	G	10: 82,323,945 (GRCm39)	F94S	unknown	Het
Gpbar1	A	G	1: 74,318,195 (GRCm39)	N146S	probably damaging	Het
Gpc5	A	G	14: 116,025,726 (GRCm39)	T588A	possibly damaging	Het
Gramd2a	A	G	9: 59,618,489 (GRCm39)	H9R	probably damaging	Het
Klk1b11	G	A	7: 43,424,199 (GRCm39)	S6N	probably benign	Het
Lrp1	A	G	10: 127,419,703 (GRCm39)	S969P	probably benign	Het
Lyz2	G	T	10: 117,114,587 (GRCm39)	A114E	probably damaging	Het
Madd	T	C	2: 90,988,454 (GRCm39)	D1193G	probably damaging	Het
Mthfd2	C	T	6: 83,294,441 (GRCm39)	R24H	probably benign	Het
Or2q1	C	T	6: 42,795,094 (GRCm39)	R230*	probably null	Het
Or4a68	T	C	2: 89,269,780 (GRCm39)	N281S	probably damaging	Het
Ovch2	A	G	7: 107,392,606 (GRCm39)	C246R	probably damaging	Het
Phf14	A	T	6: 11,953,319 (GRCm39)	I353F	possibly damaging	Het
Ppp2r5a	C	T	1: 191,104,732 (GRCm39)	V105I	probably benign	Het
Prr14l	T	C	5: 32,950,947 (GRCm39)	T1949A	probably damaging	Het
Prss48	T	G	3: 85,904,563 (GRCm39)	M212L	possibly damaging	Het
Pstk	A	T	7: 130,975,503 (GRCm39)	D152V	probably damaging	Het
Scn2a	C	A	2: 65,512,882 (GRCm39)	S214*	probably null	Het
Scn3a	T	G	2: 65,325,604 (GRCm39)	N971T	probably benign	Het
Syne3	T	C	12: 104,927,713 (GRCm39)	I250V	probably benign	Het
Synpo2	T	C	3: 122,907,768 (GRCm39)	D516G	probably benign	Het
Tcea3	T	C	4: 135,992,204 (GRCm39)	V209A	probably benign	Het
Tnr	A	G	1: 159,715,892 (GRCm39)	S885G	probably benign	Het
Trak2	T	C	1: 58,960,966 (GRCm39)	D188G	probably damaging	Het
Tubb1	A	G	2: 174,299,562 (GRCm39)	I415V	probably benign	Het
Virma	T	A	4: 11,542,154 (GRCm39)	M1580K	probably benign	Het
Vmn1r120	A	T	7: 20,786,934 (GRCm39)	I259N	possibly damaging	Het
Vmn1r64	G	A	7: 5,887,522 (GRCm39)	T7I	probably benign	Het

Other mutations in Mrpl39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00974:Mrpl39	APN	16	84,520,740 (GRCm39)	missense	probably damaging	1.00
R0671:Mrpl39	UTSW	16	84,531,282 (GRCm39)	splice site	probably benign
R1682:Mrpl39	UTSW	16	84,527,347 (GRCm39)	missense	probably damaging	0.99
R2357:Mrpl39	UTSW	16	84,524,452 (GRCm39)	missense	probably benign	0.00
R2424:Mrpl39	UTSW	16	84,527,748 (GRCm39)	missense	probably benign
R4418:Mrpl39	UTSW	16	84,522,012 (GRCm39)	critical splice donor site	probably null
R4976:Mrpl39	UTSW	16	84,531,293 (GRCm39)	critical splice donor site	probably null
R5375:Mrpl39	UTSW	16	84,520,790 (GRCm39)	missense	probably damaging	1.00
R5948:Mrpl39	UTSW	16	84,522,041 (GRCm39)	missense	probably benign	0.25
R6407:Mrpl39	UTSW	16	84,529,273 (GRCm39)	missense	probably benign	0.01
R6910:Mrpl39	UTSW	16	84,532,080 (GRCm39)	missense	unknown
R8519:Mrpl39	UTSW	16	84,527,736 (GRCm39)	missense	probably benign	0.13
R9050:Mrpl39	UTSW	16	84,531,844 (GRCm39)	intron	probably benign
R9309:Mrpl39	UTSW	16	84,532,071 (GRCm39)	missense	unknown
R9445:Mrpl39	UTSW	16	84,531,346 (GRCm39)	missense	probably benign	0.00
R9469:Mrpl39	UTSW	16	84,517,170 (GRCm39)	missense	probably damaging	1.00
R9599:Mrpl39	UTSW	16	84,527,359 (GRCm39)	missense	probably damaging	1.00
Z1176:Mrpl39	UTSW	16	84,520,860 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACAGACAAGTTGGTACCACC -3'
(R):5'- TACATCAATCCATGGATTCACGTTG -3'

Sequencing Primer
(F):5'- GGTACCACCAGTATTTTGAACTAC -3'
(R):5'- AATCCATGGATTCACGTTGTTTCTC -3'

Posted On

2017-01-03